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An ancient germ cell-specific RNA-binding protein protects the germline from cryptic splice site poisoning

Lookup NU author(s): Dr Ingrid Ehrmann, Dr Katherine JamesORCiD, Yilei Liu, Dr Sushma Grellscheid, Dr Jannetta Steyn, Dr Simon CockellORCiD, Professor David Elliott



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2019, Ehrmann et al. Male germ cells of all placental mammals express an ancient nuclear RNA binding protein of unknown function called RBMXL2. Here we find that deletion of the retrogene encoding RBMXL2 blocks spermatogenesis. Transcriptome analyses of age-matched deletion mice show that RBMXL2 controls splicing patterns during meiosis. In particular, RBMXL2 represses the selection of aberrant splice sites and the insertion of cryptic and premature terminal exons. Our data suggest a Rbmxl2 retrogene has been conserved across mammals as part of a splicing control mechanism that is fundamentally important to germ cell biology. We propose that this mechanism is essential to meiosis because it buffers the high ambient concentrations of splicing activators, thereby preventing poisoning of key transcripts and disruption to gene expression by aberrant splice site selection.

Publication metadata

Author(s): Ehrmann I, Crichton JH, Gazzara MR, James K, Liu Y, Grellscheid SN, Curk T, de Rooij D, Steyn JS, Cockell S, Adams IR, Barash Y, Elliott DJ

Publication type: Article

Publication status: Published

Journal: eLife

Year: 2019

Volume: 8

Online publication date: 24/01/2019

Acceptance date: 18/12/2018

Date deposited: 06/02/2019

ISSN (electronic): 2050-084X

Publisher: eLife Sciences Publications Ltd


DOI: 10.7554/eLife.39304

PubMed id: 30674417


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Funder referenceFunder name
BB/P006612/1Biotechnology and Biological Sciences Research Council (BBSRC)
Medical Research Council MC_PC_U127580973
National Institutes of Health R01 AG AG046544
Wellcome Trust 089225/Z/09/Z